ClinVar Miner

List of variants studied for Autosomal recessive DOPA responsive dystonia by OMIM

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_000360.4(TH):c.1388C>T (p.Thr463Met) rs45471299 0.00002
NM_000360.4(TH):c.1141C>A (p.Gln381Lys) rs121917762 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000360.4(TH):c.733A>C (p.Thr245Pro) rs28934581 0.00001
NM_000360.4(TH):c.848C>T (p.Thr283Met) rs121917764 0.00001
NC_000011.10:g.2171856C>T rs1372180906
NM_000360.4(TH):c.1105-24T>A rs587776767
NM_000360.4(TH):c.202del (p.Leu68fs)
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000360.4(TH):c.983G>T (p.Cys328Phe) rs121917765

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